Essay On Duchenne Muscular Dystrophy

Improved Essays
The protein that was concluded was dystrophin. The disease that is associated with this protein is Duchenne. Duchenne is referred to as DMD and is associated with muscular dystrophy. DMD is one of the most common gene malfunctions and is causes by having a problem with a gene which makes up the dystrophin protein. Gupta (2014) explained that when the protein is functioning properly, muscle cells are able to keep their shape and strength, but without it they can begin to break down and become weaker over time. Malfunctions in the DMD gene also change the structure of dystrophin. This can prevent the making of the useful dystrophin. The impaired fibers then begin to die off which can lead to the muscle becoming weak and heart problems that …show more content…
Mostly males are affected by this because females are unlikely to have two different copies of the gene (Duchenne and Becker n.d.). Symptoms that can come along from Duchenne muscular dystrophy are that children affect are most likely to start late at walking (Signs and Symptoms n.d.). Toddlers may have larger calf muscles than their peers because there muscle tissue is irregular. They also may be clumsy and fall many times. As children become a little older, they might start to walk on the balls of their feet and they might have difficulties raising their arms (Signs and Symptoms n.d.). Many children with this disease will end up in a wheel-chair and will eventually need assistance to move their arms and legs (Signs and Symptoms n.d.). This disease can also cause the weakening of the heart which can lead to a condition that is called cardiomyopathy (Signs and Symptoms n.d.). During the pre-teen years the diaphragm that helps operate the lungs can be affect resulting in less effective lungs (Signs and Symptoms n.d.). Duchenne muscular dystrophies on average affects 1 in 3,500 to 5,000 newborn male’s worldwide (Duchenne and Becker

Related Documents

  • Improved Essays

    1 Name of your Genetic Disorder: Duchenne muscular dystrophy (DMD) 2 Gene locus on which chromosome: Gene locus on the short arm of the X chromosome named Xp21. 3 Type of disorder (autosomal, sex-linked, dominant, recessive, aneuploidy?): DMD has an X-linked recessive inheritance pattern. 4 Symptoms of the disorder: According to the National Human Genome Research Institute , generally, the symptoms of DMD appear between the age of 1 and 6. Since the age of one, the patient gradually began to have difficulties in standing and walking.…

    • 450 Words
    • 2 Pages
    Improved Essays
  • Decent Essays

    A boy with Duchenne MD will have trouble walking and eventually will stop walking. The boy also might have trouble feeding himself, difficulty breathing, and trouble with his…

    • 116 Words
    • 1 Pages
    Decent Essays
  • Improved Essays

    In Thomsen's Disease, the cause is due to a mutation in the CLCN1 gene by autosomal dominant pattern (Myotonia congenita 2007). The CLCN1 gene regulates the flow of negatively charged chloride ions into and out of the muscle fibers (Myotonia congenita 2007). This is important in muscle contraction and relaxation (Myotonia congenita 2007). Therefore, when the CLCN1 gene is impaired, it cause myotonia (Myotonia congenita 2007). The levels of myotonia in Thomsen's Disease range from grade 1 to grade 3 (Colding-Jorgensen 2005).…

    • 687 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    From showing pigs to playing football, Teagan Imler was a very active little boy up until he was fitted for a wheelchair at the age of 10. In 2013 a family from Everett, Pennsylvania found out that it was very likely that their little boy had a lethal disease called Duchenne Muscular Dystrophy (DMD). This is a disorder that is characterized by progressive muscle degeneration, and it is often found in males during childhood. Teagan was diagnosed with DMD at the age of 6. They started noticing differences in things that their younger son, Josten, was able to do that Teagan never did, so they asked the pediatrician at Teagan’s 6 year check up.…

    • 994 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    In infancy and early childhood, growth retardation and obesity are prevelant as well. The Central Nervous System is affected as well. At birth, hypotonia is developed and also, people with Down Syndrome are more likely to develop Alzheimer Disease. Developmental and mental retardation take form and they experience a decrease in cognitive function, as well as tending to have a decreased sensitivity to pain. Lastly, the immune system is affected and sometimes compromised Infants with Down Syndrome are 20% more likely to develop Leukemia.…

    • 954 Words
    • 4 Pages
    Improved Essays
  • Decent Essays

    Duchenne Muscular Dystrophy (DMD) is a recessive muscle disorder caused by the mutation in the dystrophin gene. The word Dystrophy comes from Greek Dys- meaning abnormal and -atrophy meaning growth or nutrition.…

    • 277 Words
    • 2 Pages
    Decent Essays
  • Improved Essays

    Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy is a disorder in which a person experiences progressive muscle degeneration and weakness. This genetic disorder is an X-linked recessive chromosome disorder or can be caused by mutations when the parents genes are copied into the child's cells. It is one of nine types of muscular dystrophy (Duchenne Muscular Dystrophy, 2016) and is the result of the absence of dystrophin, a protein needed for muscles to function properly. Duchenne Muscular Dystrophy occurs primarily in boys, approximately 1 out of every 3,600 male infants (Campellone, 2016), but can very rarely appear in girls.…

    • 1040 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    Dystrophy happens when mutation occurs on the gene that makes dystrophin. Dystrophin is protein that protects muscle tissues and it links cytoskeletal actin in muscle fibers with the surrounding…

    • 932 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Muscular Dystrophy Muscular Dystrophy is a group of disorders characterized by a progressive loss of muscle mass and consequent loss of strength. There are multiple types of muscular dystrophy, each type affecting a different part of the body. Examples would be Duchenne muscular dystrophy, which effects toddlers starting from their third birthday and causing them to be in a wheel chair by the time they are 12 and usually dying from respiratory failure in their late twenties, early thirties. Becker muscular dystrophy is similar to Duchenne, it just starts later on in life and has a slower attack, most die in their mid forties.…

    • 530 Words
    • 3 Pages
    Improved Essays
  • Superior Essays

    Duchenne MD

    • 1444 Words
    • 6 Pages

    A short timeline is provided in the book Muscular Dystrophy; it provides information to describe readers the symptoms that begin to show at different ages. Around nine years old, the child is unable to stand from a sitting position. At the age of ten years old, the child shows loss of ability in standing from ground level, climbing stairs, and he or she is beginning to walk only with the help of support braces. At 11 years of age, children with Duchenne muscular dystrophy cannot usually walk for even thirty minutes at a time, and this worsens by age 12, when a wheelchair is often required full time (Muscular p.…

    • 1444 Words
    • 6 Pages
    Superior Essays
  • Improved Essays

    Autism Chapter 12 Summary

    • 597 Words
    • 3 Pages

    The causes with these disorders are a narrow biological disorder in genetic…

    • 597 Words
    • 3 Pages
    Improved Essays
  • Great Essays

    160116 Duchenne Muscular Dystrophy “Muscular dystrophy (MD) is a genetic disease characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement” (Muscular dystrophy, 2013). Muscular dystrophy is classified into nine major types that each affect specific muscle groups, certain age groups and are identified by different signals. Duchenne muscular dystrophy most commonly affects males and is targeted at younger children (Facts about Muscular Dystrophy, 2015). “The Centers for Disease Control and Prevention estimated that 1 out every 5,600 to 7,700 males between the age of 5-24 has DMD” (Seiner, Duchenne Muscular Dystrophy).…

    • 1194 Words
    • 5 Pages
    Great Essays
  • Improved Essays

    Signs and symptoms usually starts at the age of three and five. Those who are affected with Duchenne Muscular Dystrophy was discover fatigue, a possible intellectual disability but it does not get worse over time, and there will be learning difficulties , their IQ can be below seventy-five. The muscles of the shoulders, femur, pelvic area and the hips are the first to be affected. Then later it will lead to the skeletal (voluntary) muscles in the arms, legs and trunk. The heart and respiratory muscles will be affected in their early teens.…

    • 518 Words
    • 3 Pages
    Improved Essays
  • Superior Essays

    Once the child is born, if they have Duchenne’s, there are ways that the genetics counselor can be used to assist in treatments, such as the myoblast injections. Conclusion What I’ve learned about Duchenne’s muscular dystrophy is that it is a disease of the muscles that ultimately leads to a shortened life of every 1/3,600 males. In addition to the muscles being targeted, I learned that death does not just occur from being confined to a wheelchair and having atrophied muscles, the respiratory system eventually shuts down from the lack of muscle in the heart at diaphragm and that is why death occurs.…

    • 1182 Words
    • 5 Pages
    Superior Essays
  • Improved Essays

    Muscular Dystrophy Essay

    • 1251 Words
    • 5 Pages

    Occurring mostly in males, Duchenne Muscular Dystrophy is an X-linked disorder that includes progressive muscle weakening caused by an insufficient gene for the production of a protein in the muscles called dystrophin. (Lucas-Heron, 1995) It affects about one in 3600-6000 live male births, making it the most common form of muscular dystrophy. Symptoms are most often noticeable by the time patients reach the age of three to five. The affected males will lose their ability to walk by eight to twelve years of age, making them wheelchair dependent.…

    • 1251 Words
    • 5 Pages
    Improved Essays